Canonical Allele Identifier: CA383024914

Gene: SORL1

Linked Data

• dbSNP Id: rs1304444568
• gnomAD v2: 11-121448077-G-A
• COSMIC: COSM4018699
• MyVariant Identifiers: chr11:g.121448077G>A (hg19) ; chr11:g.121577368G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121577368G>A , CM000673.2:g.121577368G>A	GRCh38
NC_000011.9:g.121448077G>A , CM000673.1:g.121448077G>A	GRCh37
NC_000011.8:g.120953287G>A	NCBI36
NG_023313.1:g.130117G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.3548G>A MANE Select	ENSP00000260197.6:p.Cys1183Tyr
ENST00000260197.11:c.3548G>A	ENSP00000260197.6:p.Cys1183Tyr
ENST00000525532.5:c.380G>A	ENSP00000434634.1:p.Cys127Tyr
ENST00000532694.5:c.86G>A	ENSP00000432131.1:p.Cys29Tyr
ENST00000534286.5:c.278G>A	ENSP00000436447.1:p.Cys93Tyr
NM_003105.5:c.3548G>A	NP_003096.1:p.Cys1183Tyr
XM_011542963.1:c.3434G>A	XP_011541265.1:p.Cys1145Tyr
XM_011542964.1:c.3548G>A	XP_011541266.1:p.Cys1183Tyr
XM_011542965.1:c.2009G>A	XP_011541267.1:p.Cys670Tyr
XM_011542966.1:c.908G>A	XP_011541268.1:p.Cys303Tyr
XM_011542967.1:c.380G>A	XP_011541269.1:p.Cys127Tyr
XM_011542963.3:c.3434G>A	XP_011541265.1:p.Cys1145Tyr
XM_011542965.3:c.2009G>A	XP_011541267.1:p.Cys670Tyr
XM_011542967.3:c.380G>A	XP_011541269.1:p.Cys127Tyr
XM_017018169.2:c.3236G>A	XP_016873658.1:p.Cys1079Tyr
XM_017018170.2:c.3023G>A	XP_016873659.1:p.Cys1008Tyr
XM_017018171.1:c.3548G>A	XP_016873660.1:p.Cys1183Tyr
XM_017018172.2:c.908G>A	XP_016873661.1:p.Cys303Tyr
NM_003105.6:c.3548G>A MANE Select	NP_003096.2:p.Cys1183Tyr